Nav: Home

Researchers identify genes associated with polycystic ovary syndrome

December 20, 2018

Irregular periods, often with weight gain, or just irregular periods and infertility," said Corrine Welt, M.D., interim chief of the Division of Endocrinology and Metabolism at University of Utah Health and one of the senior authors on the study. "These results drive home the point that regardless of symptoms for diagnosing PCOS the genetic underpinnings are exactly the same."

The researchers explored the genetic basis of PCOS by conducting a whole genome association study on the genomes of more than 10,000 women with PCOS and 100,000 controls from seven studies that include participants of European ancestry. Data was collected from clinically verified cases from North American and Europe as well as from opt-in research participants, which was provided by 23andMe.

In the study, the researchers separated the PCOS patients into three groups based on diagnosis. Patients diagnosed using the National Institutes of Health criteria (high testosterone and irregular menstrual cycles; 2,540 cases and 15,020 controls) account for about 70 percent of PCOS cases. Patients diagnosed using the Rotterdam criteria (high egg production; 2,669 cases and 17,035 controls) account for up to 20 percent of PCOS cases. The researchers also examined self-identified PCOS cases (5,184 cases and 82,759 controls). They identified 14 gene variants that were associated with PCOS, including three that were identified for the first time. Only one of these 14 genetic variants differed significantly in its association by diagnostic criteria.

The researchers next examined the associations of these 14 gene variants with specific PCOS related traits in three additional studies with a combined total of more than 10,000 PCOS patients and found four variants associated with high testosterone, eight variants associated with high egg production, and nine variants associated with infertility, with three variants associated with all three traits.

"Patients often go from doctor to doctor before they get a diagnosis, because medical professionals may not be familiar with PCOS and providers from dermatology to obstetrics and gynecology to endocrinology may diagnose PCOS differently," Welt said. "As a community, we turned to genetics to understand the initiating cause of this disorder."

The genetic underpinnings of PCOS implicate neuroendocrine, metabolic and reproductive pathways, and a follow-up analysis found that the genetic pathways identified in this study are also linked to other conditions including metabolic disorders such as type 2 diabetes, menopause, obesity and depression. In addition, the researchers found, for the first time that there are some links to male pattern baldness.

"The links between PCOS and mental health suggest the importance of a holistic approach where the social and psychosocial dimensions of the disease are considered," said Felix Day, Ph.D., senior research associate in Growth and Development at the Medical Research Council Epidemiology Unit at the University of Cambridge, England and contributing author on the study. "The next steps are to further characterize the causes of this understudied disease that affects many women worldwide".

Welt noted the study may over-represent the most severe characteristics of PCOS (defined by the NIH criteria), which is more commonly diagnosed by medical professionals. As such, the results may be biased toward the variants that impart these traits. In addition, whole genome association studies identify regions of interest along the genome but do not pinpoint the causal gene.
-end-
This work was developed through the international collaboration among 50 institutions. The results are available online in the article titled Large-scale Genomic-wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria in the December 19 issue of the journal PLOS Genetics.

The International PCOS Consortium received funding from a number of organizations, including the National Institutes of Health, European Union's Horizon 2020 research and innovation program and National Institute of Health Research Biomedical Researcher Centre.

University of Utah Health

Related Diabetes Articles:

Genetic profile may predict type 2 diabetes risk among women with gestational diabetes
Women who go on to develop type 2 diabetes after having gestational, or pregnancy-related, diabetes are more likely to have particular genetic profiles, suggests an analysis by researchers at the National Institutes of Health and other institutions.
Maternal gestational diabetes linked to diabetes in children
Children and youth of mothers who had gestational diabetes during pregnancy are at increased risk of diabetes themselves, according to new research published in CMAJ (Canadian Medical Association Journal).
Two diabetes medications don't slow progression of type 2 diabetes in youth
In youth with impaired glucose tolerance or recent-onset type 2 diabetes, neither initial treatment with long-acting insulin followed by the drug metformin, nor metformin alone preserved the body's ability to make insulin, according to results published online June 25 in Diabetes Care.
People with diabetes visit the dentist less frequently despite link between diabetes, oral health
Adults with diabetes are less likely to visit the dentist than people with prediabetes or without diabetes, finds a new study led by researchers at NYU Rory Meyers College of Nursing and East Carolina University's Brody School of Medicine.
Diabetes, but not diabetes drug, linked to poor pregnancy outcomes
New research indicates that pregnant women with pre-gestational diabetes who take metformin are at a higher risk for adverse pregnancy outcomes -- such as major birth defects and pregnancy loss -- than the general population, but their increased risk is not due to metformin but diabetes.
New oral diabetes drug shows promise in phase 3 trial for patients with type 1 diabetes
A University of Colorado Anschutz Medical Campus study finds sotagliflozin helps control glucose and reduces the need for insulin in patients with type 1 diabetes.
Can continuous glucose monitoring improve diabetes control in patients with type 1 diabetes who inject insulin
Two studies in the Jan. 24/31 issue of JAMA find that use of a sensor implanted under the skin that continuously monitors glucose levels resulted in improved levels in patients with type 1 diabetes who inject insulin multiple times a day, compared to conventional treatment.
Complications of type 2 diabetes affect quality of life, care can lead to diabetes burnout
T2D Lifestyle, a national survey by Health Union of more than 400 individuals experiencing type 2 diabetes (T2D), reveals that patients not only struggle with commonly understood complications, but also numerous lesser known ones that people do not associate with diabetes.
A better way to predict diabetes
An international team of researchers has discovered a simple, accurate new way to predict which women with gestational diabetes will develop type 2 diabetes after delivery.
The Lancet Diabetes & Endocrinology: Older Americans with diabetes living longer without disability, US study shows
Older Americans with diabetes born in the 1940s are living longer and with less disability performing day to day tasks than those born 10 years earlier, according to new research published in The Lancet Diabetes & Endocrinology journal.
More Diabetes News and Diabetes Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Teaching For Better Humans 2.0
More than test scores or good grades–what do kids need for the future? This hour, TED speakers explore how to help children grow into better humans, both during and after this time of crisis. Guests include educators Richard Culatta and Liz Kleinrock, psychologist Thomas Curran, and writer Jacqueline Woodson.
Now Playing: Science for the People

#556 The Power of Friendship
It's 2020 and times are tough. Maybe some of us are learning about social distancing the hard way. Maybe we just are all a little anxious. No matter what, we could probably use a friend. But what is a friend, exactly? And why do we need them so much? This week host Bethany Brookshire speaks with Lydia Denworth, author of the new book "Friendship: The Evolution, Biology, and Extraordinary Power of Life's Fundamental Bond". This episode is hosted by Bethany Brookshire, science writer from Science News.
Now Playing: Radiolab

Space
One of the most consistent questions we get at the show is from parents who want to know which episodes are kid-friendly and which aren't. So today, we're releasing a separate feed, Radiolab for Kids. To kick it off, we're rerunning an all-time favorite episode: Space. In the 60's, space exploration was an American obsession. This hour, we chart the path from romance to increasing cynicism. We begin with Ann Druyan, widow of Carl Sagan, with a story about the Voyager expedition, true love, and a golden record that travels through space. And astrophysicist Neil de Grasse Tyson explains the Coepernican Principle, and just how insignificant we are. Support Radiolab today at Radiolab.org/donate.